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Masquerade Syndrome

DR R PATEL
Name the common syndromes that masquerade as anterior and posterior uveitis and their diagnostic tests. 5+5 PAPER III DNB question Papers 2011 (June)

Masquerade Syndrome

Group of disorders simulating/mimic Ant. Or Post. Uveitis in their C/F but are having entirely diff. etiopathogenesis being usually neoplastic or occasionally ischaemic
1967 :Theodore : used the term "Masquerade Syndrome" in ophthalmology to describe a case of conjunctival carcinoma that manifested as chronic conjunctivitis Many are malignant; prompt dx needed. Uveitis Masquerade accounts for 5 % of patients with uveitis in a tertiary care centre

When to suspect ?

Masquerade syndromes should be considered :


In the very young and in the elderly. with persistent idiopathic uveitis that is nonresponsive to corticosteroids

Masquerade Syndromes

Anterior Segment

Posterior Segment

Retinoblastoma Leukemia IOFB Malignant Melanoma JXG (Juvenile xanthogranuloma) Peripheral RD

Retinitis pigmentosa Reticulum Cell Sarcoma Lymphoma Malignant Melanoma MS

Masquerade syndromes

Lymphoid malignancies

Nonneoplastic

i. Lymphoma ii. Leukemia i.Uveal melanoma i. Choroidal metastasis ii. Paraneoplastic syndromes

Nonlymphoid malignancies

CAR(carcinoma-associated retinopathy) MAR Bilateral diffuse uveal melanocytic proliferation

a. Chronic peripheral retinal detachment b. Retinitis pigmentosa c. Intraocular foreign body d. Amyloidosis e. Vitreous hemorrhage f. Retinal vascular disease

iv. Retinoblastoma v. Juvenile xanthogranuloma Vi .Medulloepitheliom

i. Ocular ischemic syndrome ii. Hypertensive retinopathy iii. Diabetic retinopathy iv. Vascular occlusion

g. Coats diseasea

Frequency of masquerade syndromes upon referral


Malignancy type Lymphoma (13) Leukemia (3) Melanoma (1) Metastasis (1) Retinoblastoma (1) Nonmalignancy Retinal vascular disease (10) Retinal Detachment (2) Coats' Disease (1) Other (8)

INTRAOCULAR LYMPHOMA :INTRODUCTION

Synonyms : large B-cell lymphoma, reticulum cell sarcoma. The most common neoplastic masquerader(68%) NHL involving eye is a rare cond. Which mimics ch. Uveitis or post. Uveitis Ocular lymphomas occur in both primary & secondary forms Site of origin of PCNSL is unknown Yet are able to grow only in these two immunologically sequestered locations (CNS or eye)

CLASSIFICATION of Lymphoma

1 Hodgkin disease may cause

anterior uveitis, vitritis, and multifocal fundus lesions resembling chorioretinitis.

2 Non-Hodgkin lymphoma may cause

conjunctival involvement, orbital involvement, Mikulicz syndrome and uveal infiltration.


intermediate uveitis and sub-RPE infiltrates. represents a subset of primary central nervous system lymphoma (PCNSL

3 CNS B-cell lymphoma may be associated with

4 Primary intraocular lymphoma (PIOL)

Intraocular Lymphoma

Intraocular lymphoma can masquerade as a chronic infection and may be a sign of CNS malignancy. Etiopathogenesis

Malignant infiltration of choroid by lymphomatous cells.

PRIMARY INTRAOCULAR LYMPHOMA

Demographics

Fifty to sixty years of age.

Ocular manifestations Presentation


unilateral floaters blurred vision red eye photophobia, which frequently becomes bilateral after a variable interval.

Intraocular Lymphoma :Signs

Mild anterior uveitis with

cells, flare and keratic precipitates.

Vitritis: impede visualization of the fundus. Large solid multifocal subretinal infiltrates Occasionally coalescence of sub-RPE deposits may form a ring encircling the equator Other features include

retinal vasculitis, vascular occlusion, exudative retinal detachment and optic atrophy.

Lack of CMO is an important diagnostic clue, since in true uveitis significant vitritis is almost always accompanied by CMO.

Anterior segment of the eye of a patient with biopsy-prove intraocular large-cell lymphoma demonstrating corneal keratitic precipitates

Slit-lamp biomicroscopy examination revealing sheets of vitreous cells characteristic of intraocular lymphoma

Vitritis in patient with intraocular lymphoma. universal finding

Multifocal subretinal infiltrates

Shallow retinal detachment

Infiltration of transformed peripheral T-cell lymphoma into the iris

Subretinal infiltration of lymphoma cells

Fundus photograph of patient with intraocular lymphoma showing retinal infiltrates and hemorrhage mimicking Cytomegalovirus retinitis.

Obstructive hydrocephalus and cerebral lymphoma

Optic disc edema in human immunodeficiency virus-positive patient

Chorioretinal infiltration of primary ocular and CNS large B-cell NHL

Masquerading as multifocal chorioretinitis

PATHOLOGY

Thickening of detatched retina ( Pizza-Pie appearance ) Subretinal pigment elevation Vitreous infiltration FA shows blockage with a granular characteristic, due to the presence of subRPE accumulation of lymphomatous cells (leopard skin spots).

Intraocular Lymphoma

Systemic Findings

Behavioral changes hemiparesis Ataxia MRI. Lumbar puncture. Vitreous biopsy for cytology, flow cytometry, interleukin-6 and -10, immunoglobulin heavy chain gene rearrangement. Radiation therapy. Chemotherapy (intrathecal methotrexate or cytosine arabinoside [ara-C]) . Biologic agents involving specific anti-B cell monoclonal antibodies (such as rituximab

Special Tests

Treatment and Management


Initial workup may be negative, but maintain a high clinical suspicion in uveitis refractory to treatment.

MR image showing a hypointense multifocal lesion

SYSTEMIC LYMPHOMA

Epidemiology

Rare intraocular involvement, older adults Vitreitis, retinal vasculitis, necrotizing retinitis, diffuse choroiditis, focal uveal masses, AU, hypopyon Lymphadenopathy, involvement of retroperitoneum, paranasal sinuses, orbits, meninges, bone marrow

Ocular Manifestations:

Systemic Associations:

Comments:

ocular involvement may be initial sign average longevity of 31 months following ocular diagnosis

RETINOBLASTOMA

Most common primary, malignant, intraocular tumour of childhood (1:20,000) No sexual predilection Presents before age of 3 years (average 3 months) Heritable (40%) or non-heritable (60%) Predisposing gene (RPE 1) on 13q14 AU(13%), vitreitis, shifting white hypopyon

Presentations of retinoblastoma

Leukocoria - 60%

Strabismus - 20% Secondary glaucoma

Anterior segment invasion Orbital inflammation Orbital invasion

Early endophyliticretinoblastoma

White flat lesion

Placoid lesion

More advanced endophytic retinoblastoma

Friable white mass

Cottage cheese appearance

Fine surface blood vessels

Vitreous seedings

Exophytic retinoblastoma

Multiglobulated white mass with overlying retinal detachment

May be difficult to visualize through deep detachment

Occasionally, tumor necrosis may produce significant inflammation.

Right eye showing pseudo-hypopyon and tumour infiltrating the iris.

Pseudohypopyon was an unusual first sign of retinoblastoma in a 6-year-old girl without a positive family history

RETINOBLASTOMA

Investigations

Ultrasound, aqueous tap USG, CT, MRI, Bonemarrow aspiration, lumbar puncture Calcification(75%) on ultrasonography and CT scan may help to differentiate retinoblastoma from various forms of childhood uveitis (toxoplasmosis, toxocariasis, cysticercosis, and pars planitis)

CT diagnosis of retinoblastoma
Calcification

Optic nerve involvement Orbital and CNS extension Pinealoblastoma

Treatment Options of Retinoblastoma


1. Small tumours
Laser photocoagulation
Transpupillary thermotherapy Cryotherapy

2. Medium tumours

Brachytherapy Chemotherapy External beam radiotherapy

3. Large tumours
Chemotherapy followed by local treatment Enucleation

4. Extraocular extension
External beam radiotherapy

5. Metastatic disease
Chemotherapy

CILIARY BODY MELANOMA

10% of uveal melanomas C/F 6 th decade Dilated episcleral vessels in same quadrants (Sentinel vessels ) Astigmatism, Subluxation, Cataract RD Necrotic tumors may elicit an intense inflammatory response associated with seeding of tumor cells into the vitreous cavity and anterior segment

Ciliary body melanoma

Rare - 12% of uveal melanomas

Presentation - 6th decade

May be discovered by chance

Prognosis - guarded

Signs of ciliary body melanoma

Sentinel vessels

Extraocular extension

Erosion through iris root Lens subluxation or cataract Retinal detachment

CILIARY BODY MELANOMA

C/F Ant. Uveitis Investigations

Tripple mirror contact lens, Transillumination, Ultrasonic biomicroscopy, Biopsy


Infiltration of malignant melanoma into the iris
Keratic precipitates, occasional intraocular cells, and posterior synechiae

Treatment options of ciliary body melanoma


1. Iridocyclectomy - small or medium tumours 2. Enucleation - large tumours 3. Radiotherapy - selected cases

Uveal melanoma

Epidemiology:

4.9% of 450 enucleation specimens had ocular inflammation initially Episcleritis, AU, PU, endophthalmitis, panophthalmitis May have features of metastatic melanoma

Ocular Manifestations:

Systemic Associations:

Choroidal melanoma
Most common uveal melanoma 80% of cases Presentation - sixth decade Prognosis - usually good

Most common primary intraocul tumour in adults

Choroidal melanoma (1)

Brown, elevated, subretinal mass Occasionally amelanotic Double circulation

Secondary retinal detachment

Choroidal folds

Choroidal melanoma (2)

Surface orange pigment (lipofuscin) is common Mushroom-shaped if breaks through Bruchs membrane

Ultrasound - acoustic hollowness, choroidal excavation and orbital shadowing

Treatment of choroidal melanoma


1. Brachytherapy - less than 10 mm elevation and 20 mm diameter

2. Charged particle irradiation - if unsuitable for brachytherapy


3. Transpupillary thermotherapy - selected small tumours 4. Trans-scleral local resection - carefully selected tumours less than 16 mm in diameter 5. Enucleation - very large tumours, particularly if useful vision lost 6. Exenteration - extraocular extension

LEUKAEMIAS :INTRODUCTION

Gp. Of neoplastic disorders ch. By abnormal proliferation of WBC. Three types


ALL- Children are affected AML- Worse prognosis,Adults more affected Chronic leukaemias Elderly affected
2875% with acute leukemia less with chronic

Ocular findings in

LEUKAEMIAS OCULAR FEATURES

SCH Iritis & Hypopyon Diffuse & Nodular iris thickening Hyphaema Orbital involvement Optic neuropathy

Anterior segment infiltration in acute myeloid leukemia (AML) presenting as hypopyon uveitis

Relapsing acute myeloid leukemia presenting as hypopyon uveitis Sapna P Hegde1, Atul T Ursekar2, Ajay A Chitale3

LEUKAEMIAS Retinopathy

Venous tortuosity & dilatation Flame shaped Hge & ROTH SPOTS Cotton wool spots Peripheral retinal neovascularisation LEOPARD SPOT RETINA

Leukemic infiltration of the retina

Masquerading as infectious chorioretinitis

Diagnostic Tests

Bone marrow peripheral blood smear aqueous cytology

JUVENILE XANTHOGRANULOMA

Vascular Tm. Affecting skin & eye Important cause spontaneous hyphaema & seconary glaucoma Epidemiology:

85% of skin lesions present before 1 year of age


Yellowish iris nodule or diffuse thickening, heterochromia, spontaneous hyphema

Ocular Manifestations:

Systemic Associations:Raised, reddish-yellowish skin lesions Diagnosis


iris biopsy or by finding similar lesions on the skin

Metastatic tumors

Epidemiology :

Most common intraocular malignancy in adults Usually bilateral, multifocal, plateau-shaped, yellow posterior segment lesions with SRF; anterior segment: AU, iris nodules, NVI Lung and breast carcinoma most common primary sites

Ocular Manifestations:

Systemic Associations :

Cutaneous melanoma most common metastasis to retina

Long-standing peripheral rhegmatogenous retinal detachment

May produce a cellular reaction in the anterior or posterior chamber as well as PS. Diagnostic Tests

Ophthalmoscopy Ultrasound

Retained intraocular foreign body

Retained intraocular foreign body associated with trauma may cause persistent anterior and/ or posterior segment inflammation. Diagnostic Tests:
X-ray Ultrasound CT scan( should demonstrate the abnormality)

Retinitis pigmentosa

May present with vitreous cells and posterior subcapsular cataract The bone spicule pigment deposition in the retina, attenuated retinal vessels, mottling and atrophy of the RPE, and waxy pallor of the optic nerve help to distinguish this disease from other disorders. The diagnosis can be confirmed with an extinguished electroretinogram and ring scotoma on visual field testing.

Kruckenbergs spindle in a patient with pigment dispersion syndrome that masqueraded as anterior uveitis.

Ocular ischemic syndrome

Age (yr):50+ Signs of Inflammation


Cell Flare Redness

Diagnostic Tests:
IVFA Carotid Doppler

Ocular Ischemic Syndrome

What percent carotid obstruction is typically required to cause OIS?

90%

Describe the symptoms

Gradual visual loss Aching pain Prolonged recovery following bright light exposure

What are anterior segment findings?


Iris neovascularization (67%) AC cellular reaction (20%)

Ocular Ischemic Syndrome

Describe the posterior segment findings


Narrowed arteries Dilated, non-tortuous veins Mid-peripheral retinal hemorrhages, microaneurysms Neovascularization
Delayed choroidal filling (60%) Delayed arteriovenous transit (95%) Vascular staining (85%)

What are the fluorescein angiographic findings?


What is the 5-year mortality rate and what is the most common cause of death?

40% Cardiovascular disease

85yo chronic pain and redness OD

Coats disease

Aspecific uveitis Vitreous infiltrates Fluorescein angiography

Presentation of Coats disease

First decade, more common in boys Always unilateral

Visual loss and strabismus

White fundus reflex (leukocoria)

Progression of Coats disease

Retinal and subretinal hard exudation Overlying vascular dilatation and tortuosity May benefit from photocoagulation

Slow progresssion of exudation Exudative retinal detachment and retrolental mass Severe visual loss Treatment not beneficial

May mimic retinoblastoma

FA of Coats disease

Vascular malformations are highlighted

Uveitis associated with medications

CONCLUSION

It is clear that a number of entities can masquerade as idiopathic uveitis, and in the absence of a correct diagnosis inappropriate therapy may be prescribed. The diagnosis of a masquerade syndrome should therefore be considered in the evaluation of all patients with undiagnosed inflammatory eye disease

Thanks for your attention

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